Exome sequencing study of 20 patients with high myopia.

ABSTRACT:

Background

High myopia is a common ocular disease worldwide. To expand our current understanding of the genetic basis of high myopia, we carried out a whole exome sequencing (WES) study to identify potential causal gene mutations.

Methods

A total of 20 individuals with high myopia were exome sequenced. A novel filtering strategy combining phenotypes and functional impact of variants was applied to identify candidate genes by multi-step bioinformatics analyses. Network and enrichment analysis were employed to examine the biological pathways involved in the candidate genes.

Results

In 16 out of 20 patients, we identified 20 potential pathogenic gene variants for high myopia. A total of 18 variants were located in myopia-associated chromosomal regions. In addition to the

SUBMITTER: Wan L 

PROVIDER: S-EPMC6148412 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature